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Our Mission

Our mission is to improve the quality of life for children and families impacted by SHINE Syndrome through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness.

Our Vision

SHINE Syndrome Foundation’s vision is a future where patients have access to treatments, information, and a global community to share their journey with. With the help of research funding and efforts to raise awareness, we can find the answers to the questions so many SHINE families are trying to answer!

Meet the Board

The SHINE Syndrome Foundation Board of Directors is comprised entirely of SHINE Syndrome parents. We are dedicated to building a community of SHINE families, and work continuously to further the foundation mission in spreading awareness and facilitating research to find answers and treatments for patients with DLG4 Synaptopathy. Visit our Board page or click the images below to meet our current board of directors.

Marie-FranceGervais - President

Tim Stuart - President

Melanie - Treasurer

Courtney Roche - Secretary

Courtney Thomson - Patient and Family Engagement

Justin Neduchal - Vice President and EthicsOfficer

Laura Palmer - Chairperson Emeritus

SHINE History

In just a few short years, our organization and understanding of SHINE have come a very long way. Explore the timeline to see what has happened recently in the world of SHINE Syndrome.

Pre-2019
"VUS" Mutation
DLG4 Mutation Unknown

Although it's uncertain how many patients had previously been identified with a DLG4 mutation, it was initially classified as "VUS" or "Variance of Unknown Significance." Research had not yet identified the effects of mutations within the gene.

2019
Variance Confirmed
Variance Confirmed

The DLG4 mutation was confirmed to be disease-causing.

2019
Parents Unite
Parent Group Formed

After the DLG4 variance was confirmed, a group of parents began a Facebook group, and our community quickly began to grow.  Within a year, more than fifteen families had come in contact.

2021
Disease Named
SHINE Syndrome Born

With the publication by Agustí Rodríguez-Palmero, et al, in February 2021, DLG4 Synaptopathy was named.  Soon after, a couple involved moms developed the name "SHINE Syndrome" based on common characteristics of the disease.

2021
Foundation Formed
SHINE Foundation Officially Established

SHINE Syndrome Foundation was officially formed in December of 2021 by a small group of families impacted by DLG4 Synaptopathy.

Get Involved

The SSF Board is continually on the lookout for community members, researchers, corporations, or other organizations to facilitate fundraising and research or just to spread awareness on SHINE Syndrome.  If you’re interested in being part of this journey, please visit our Take Action page to see ways to directly help the cause, or contact us directly on the Contact page for other inquiries.

Accomplishments and Financials

In a very short time, SHINE Syndrome Foundation and the global DLG4 Synaptopathy community have cultivated various partnerships with experts in rare diseases, raised funds to directly support research initiatives, and has expanded our known community base to 14 countries!  Visit our Financials page for our tax information and a more in-depth review on achievements.

Diversity and Inclusivity

The SHINE Syndrome Foundation maintains and promotes a diverse, inclusive, and equitable nonprofit institution where all officers, volunteers, partners, and program participants – whatever their gender, race, ethnicity, national origin, age, sexual orientation or identity, education or disability – feel valued, respected, and heard.